Genomics England decides what diseases to look for in newborns

Genomics England has published an initial list of 223 rare conditions that will be investigated as part of its Generation Study.

The study is part of the Newborn Genomes Programme (see BioNews 1172). Results of the study are expected to inform future policy decisions about screening newborns in the UK, and make improvements to the diagnosis and treatment of genetic conditions.

The Generation Study is an NHS-embedded programme seeking to sequence the genomes of 100,000 newborns, to identify actionable rare genetic conditions that affect babies. It is estimated that 500-1000 of the 100,000 babies who take part in the study will be identified as having suspected diagnoses. Early diagnosis via participation in the study would in turn enable early testing and treatment.

The selection of the 223 conditions was guided by four key principles developed by Genomics England in consultation with scientists, healthcare professionals, people living with rare conditions and the public.

• There must be good evidence that a listed condition is caused by gene variants that can be looked for in the genome.
• A high proportion of people who have such gene variants must likely to have symptoms that would affect their quality of life.
• Starting treatment for a listed condition before symptoms appear must be shown to lead to better outcomes than starting treatment after symptoms appear.
• Treatment for a listed condition must be equally accessible to all (for example, via the NHS).

'We see this announcement today as the start of a journey,' said Amanda Pichini, clinical lead for genetic counselling at Genomics England. 'We'll continue to revisit both the principles and the list of conditions to make sure we are keeping up with emerging evidence, advancements in genomics and treatment for rare conditions, as well as continuing to engage with the public, specialists and families with rare conditions.'

The screening introduced is not intended to supplant the NHS blood spot test currently used to detect nine rare and serious health conditions (including sickle cell disease and cystic fibrosis) in newborns. Instead, the hope is that screening a baby's whole genome alongside the blood spot test could lead to the detection and treatment of many more rare and treatable conditions.

Because some of the listed conditions can be caused by variants in more than one gene, more than 500 genes will be looked at. Genomics England added that the initial list will subject to further change during the Generation Study, in response to new research and evidence.

'This high-powered research study will teach us a great deal about genomics as a newborn screening tool and about how best to deliver newborn screening for rare conditions in the future', said Nick Meade, director of policy at Genetic Alliance UK.

Genomics England aims to start the study in NHS hospitals in late 2023.